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Clinical Genetics
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November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome
Antoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Antoine Civit, Paul Gueguen, Helene Blasco, et al.
Brain : a Journal of Neurology
|
July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Yuji Nakamura, Issei S Shimada, Reza Maroofian, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 3) with videos related to
Sort By:
Page
of 1
Clinical Genetics
|
November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome
Antoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 20, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Antoine Civit, Paul Gueguen, Helene Blasco, et al.
Brain : a Journal of Neurology
|
July 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Yuji Nakamura, Issei S Shimada, Reza Maroofian, et al.
Page
of 1